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Article

Identification of new F8 deep intronic variations in patients with haemophilia A.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2020

Dericquebourg Amy, Jourdy Yohann, Fretigny Mathilde, Lienhart Anne, Claeyssens Ségolène, Ternisien Catherine, Boisseau Pierre, Rohrlich Pierre-Simon, Négrier Claude, Vinciguerra Christine

Abstract excerpt

INTRODUCTION: With current molecular diagnosis, about 1 to 5% of haemophilia A (HA) patients remain genetically unresolved. In these cases, deep intronic variation or structural variation disrupting the F8 gene could be causal. AIM: To identify the causal variation in four genetically unresolved mild-to-severe HA patients using an F8 mRNA analysis approach. METHODS: Ectopic F8 mRNA analysis was performed in four...

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PMID: 32812322
DOI: 10.1111/hae.14134

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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